IthaID: 2294


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 327 (ACC>AGC) HGVS Name: NG_013087.1:g.7210C>G

Context nucleotide sequence:
AGATTCGCGCGCTCGGACGAGCTGA [C/G] CCGCCACTACCGGAAACACACGGGG (Strand: -)

Also known as:

Comments: Protein Change: T327S. Cause borderline HbA2

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for δ
Associated Phenotypes: N/A

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7210
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Sardinians
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, Barella S, Cao A, Galanello R, KLF1 gene mutations cause borderline HbA(2)., Blood , 118(16), 4454-8, 2011
Created on 2013-12-20 13:59:54, Last reviewed on 2014-03-20 10:46:07 (Show full history)

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